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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG2
(R378C)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+3 more
GUncertain significance
ALG2
(H355R)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
GUncertain significance
ALG2
(C339S)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
GUncertain significance
ALG2
(F150S)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(V68M)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
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